A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7730893



Internal ID15011206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21581818..21590804hg38UCSC Ensembl
Innerchr14:21581918..21590704hg38UCSC Ensembl
Outerchr14:21581717..21590904hg38UCSC Ensembl
chr14:22049952..22058923hg19UCSC Ensembl
Innerchr14:22050052..22058823hg19UCSC Ensembl
Outerchr14:22049852..22059023hg19UCSC Ensembl
chr14:21119792..21128763hg18UCSC Ensembl
Innerchr14:21119892..21128663hg18UCSC Ensembl
Outerchr14:21119692..21128863hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg388987
hg198972
hg188972
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302665
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7730893
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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